Canonical Allele Identifier: CA7724686

Gene: POLG

Linked Data

• ClinVar Variation Id: 381520
• ClinVar RCV Id: RCV000438492 ; RCV000758261 ; RCV003147454 ; RCV004022346
• dbSNP Id: rs139717885
• ExAC: 15:89868841 G / A
• gnomAD v2: 15-89868841-G-A
• gnomAD v3: 15-89325610-G-A
• gnomAD v4: 15-89325610-G-A
• MyVariant Identifiers: chr15:g.89868841G>A (hg19) ; chr15:g.89325610G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325610G>A , CM000677.2:g.89325610G>A	GRCh38
NC_000015.9:g.89868841G>A , CM000677.1:g.89868841G>A	GRCh37
NC_000015.8:g.87669845G>A	NCBI36
NG_008218.1:g.14186C>T
NG_008218.2:g.14186C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1789C>T	ENSP00000516154.1:p.Arg597Trp
ENST00000268124.11:c.1789C>T MANE Select	ENSP00000268124.5:p.Arg597Trp
ENST00000530292.3:c.1390C>T	ENSP00000432885.2:p.Arg464Trp
ENST00000635986.2:c.1789C>T	ENSP00000490653.2:p.Arg597Trp
ENST00000636774.1:c.*356C>T	ENSP00000489799.1:n.*356C>T
ENST00000637238.1:c.526C>T	ENSP00000490756.1:p.Arg176Trp
ENST00000637264.1:c.861C>T
ENST00000666746.1:c.1366C>T
ENST00000670281.1:c.109C>T	ENSP00000499709.1:p.Arg37Trp
ENST00000672071.1:n.1987C>T
ENST00000672923.2:n.1892C>T
ENST00000268124.9:c.1789C>T	ENSP00000268124.5:p.Arg597Trp
ENST00000442287.6:c.1789C>T	ENSP00000399851.2:p.Arg597Trp
ENST00000526314.2:c.171C>T
ENST00000631044.2:c.*1172C>T	ENSP00000486730.1:n.*1172C>T
NM_001126131.1:c.1789C>T	NP_001119603.1:p.Arg597Trp
NM_002693.2:c.1789C>T	NP_002684.1:p.Arg597Trp
NM_001126131.2:c.1789C>T	NP_001119603.1:p.Arg597Trp
NM_002693.3:c.1789C>T MANE Select	NP_002684.1:p.Arg597Trp